Visual impairment, and Microcornea

Diseases related with Visual impairment and Microcornea

In the following list you will find some of the most common rare diseases related to Visual impairment and Microcornea that can help you solving undiagnosed cases.


Top matches:

Low match CATARACT 3, MULTIPLE TYPES; CTRCT3


Mutations in the CRYBB2 gene have been found to cause several types of cataract, which have been described as congenital cerulean, 'blue dot,' Coppock-like, sutural with punctate and cerulean opacities, pulverulent embryonal, pulverulent with cortical opacities, dense posterior star-shaped subcapsular with pulverulent opacities in the cortical and embryonal regions, and dense embryonal.Before it was known that mutations in the CRYBB2 gene cause several types of cataract, the preferred title of this entry was 'Cataract, Congenital, Cerulean Type 2,' with the symbol CCA2.

CATARACT 3, MULTIPLE TYPES; CTRCT3 Is also known as cataract 3, multiple types, with or without microcornea|cataract, congenital, cerulean type, 2|cca2

Related symptoms:

  • Cataract
  • Visual impairment
  • Microphthalmia
  • Congenital cataract
  • Microcornea


SOURCES: OMIM MENDELIAN

More info about CATARACT 3, MULTIPLE TYPES; CTRCT3

Low match CATARACT 4, MULTIPLE TYPES; CTRCT4


Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea.Because multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here.

CATARACT 4, MULTIPLE TYPES; CTRCT4 Is also known as cca3|cataract, nonnuclear polymorphic congenital|cataract, congenital, cerulean type, 3|cataract, crystalline aculeiform|caca|cataract, punctate, progressive juvenile-onset|cataract 4, multiple types, with or without microcornea|pcc

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual loss
  • Congenital cataract
  • Microcornea


SOURCES: OMIM MENDELIAN

More info about CATARACT 4, MULTIPLE TYPES; CTRCT4

Low match CATARACT 17, MULTIPLE TYPES; CTRCT17


Mutations in the CRYBB1 gene have been found to cause multiple types of cataract, which have been described as congenital nuclear, congenital nuclear with anterior and posterior Y-suture and polar opacities, and pulverulent.The preferred title/symbol for this entry was formerly 'Cataract, Congenital Nuclear, Autosomal Recessive 3; CATCN3.'

CATARACT 17, MULTIPLE TYPES; CTRCT17 Is also known as cataract, congenital nuclear, autosomal recessive 3|catcn3|cataract 17, multiple types, with or without microcornea

Related symptoms:

  • Nystagmus
  • Cataract
  • Visual impairment
  • Congenital cataract
  • Microcornea


SOURCES: MESH OMIM MENDELIAN

More info about CATARACT 17, MULTIPLE TYPES; CTRCT17

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Other less relevant matches:

Low match CATARACT 2, MULTIPLE TYPES; CTRCT2


Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea.Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL.

CATARACT 2, MULTIPLE TYPES; CTRCT2 Is also known as cataract 2, multiple types, with or without microcornea|ccl|cataract, coppock-like

Related symptoms:

  • Nystagmus
  • Cataract
  • Blindness
  • Photophobia
  • Congenital cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT 2, MULTIPLE TYPES; CTRCT2

Low match EDICT SYNDROME


EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.

EDICT SYNDROME Is also known as endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome|familial keratoconus with cataract|keratoconus, familial, with early-onset anterior polar cataract|endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal

Related symptoms:

  • Cataract
  • Myopia
  • Reduced visual acuity
  • Corneal opacity
  • Congenital cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about EDICT SYNDROME

Low match CATARACT 9, MULTIPLE TYPES; CTRCT9


Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene.

CATARACT 9, MULTIPLE TYPES; CTRCT9 Is also known as cataract, autosomal recessive congenital 1|cataract, autosomal dominant|catc1|cataract 9, multiple types, with or without microcornea

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about CATARACT 9, MULTIPLE TYPES; CTRCT9

Low match MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Visual impairment
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9; MCOPCB9

Low match COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME


COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME Is also known as macom syndrome

Related symptoms:

  • Nystagmus
  • Strabismus
  • Myopia
  • Reduced visual acuity
  • Coloboma


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COLOBOMATOUS MACROPHTHALMIA-MICROCORNEA SYNDROME

Low match MICROPHTHALMIA, ISOLATED 6; MCOP6


Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011).

MICROPHTHALMIA, ISOLATED 6; MCOP6 Is also known as microphthalmia, posterior nonsyndromic

Related symptoms:

  • Strabismus
  • Cataract
  • Blindness
  • Microphthalmia
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, ISOLATED 6; MCOP6

Low match TOTAL EARLY-ONSET CATARACT


TOTAL EARLY-ONSET CATARACT Is also known as cataract, congenital, x-linked|cataract, congenital total, with posterior sutural opacities in heterozygotes|cxn|cct|cataract 40 with or without microcornea

Related symptoms:

  • Cataract
  • Visual impairment
  • Ventricular septal defect
  • Microphthalmia
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOTAL EARLY-ONSET CATARACT

Top 5 symptoms//phenotypes associated to Visual impairment and Microcornea

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Congenital cataract Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Nuclear cataract Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Visual impairment and Microcornea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Amblyopia Strabismus Iris coloboma Reduced visual acuity Coloboma Glaucoma

Rare Symptoms - Less than 30% cases


Pulverulent cataract Blindness Subcapsular cataract Intellectual disability Cerulean cataract Anterior polar cataract Polar cataract Sutural cataract Lamellar cataract Visual loss Myopia Increased intraocular pressure Retinal vascular tortuosity Retinal fold Vascular tortuosity Scleral thickening Venous occlusion High hypermetropia Hypermetropia Retinal degeneration Shallow anterior chamber Laryngomalacia Asteroid hyalosis Ventricular septal defect Patent ductus arteriosus Abnormal heart morphology Deeply set eye Stridor Preauricular pit Severe vision loss Inspiratory stridor Posterior polar cataract Cortical cataract Lenticonus Nyctalopia Posterior subcapsular cataract Depressivity Anterior segment developmental abnormality Aculeiform cataract Photophobia Iris atrophy Corneal opacity Astigmatism Ectropion Keratoconus Hypoplasia of the iris Ectopia pupillae Abnormal cornea morphology Posterior staphyloma Aphakia Progressive cataract Global developmental delay Retinal detachment Esotropia Pendular nystagmus High myopia Chorioretinal coloboma Macular atrophy Scleral staphyloma Posterior lenticonus



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